title: [The Hermansky-Pudlak syndrome and the differential diagnosis of oculocutaneous albinism (author's transl)].
abstract: Hermansky-Pudlak syndrome is reported from a 5 year old girl presenting with oculocutaneous albinism and bleeding tendency. The cause of the coagulation abnormality was found to be a disturbance of the thrombocyte function. Hermansky-Pudlak syndrome is presented together with the differential diagnosis of oculocutaneous albinism.
mesh_terms: D000417:Albinism / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006406:Hematoma / Q000209:etiology; D006474:Hemorrhagic Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D014442:Monophenol Monooxygenase / Q000097:blood; D009154:Mutation; D013577:Syndrome
chemical_list: D014442:Monophenol Monooxygenase
vernacular_title: Das Hermansky-Pudlak Syndrom in der Differentialdiagnose des okulokutanen Albinismus.